Facial Ectodermal Dysplasia Latest Advances

Clinical presentation and genetics of tricho-rhino-phalangeal syndrome (TRPS) type 1: A single-center case series of 15 patients and seven novel TRPS1 variants.

Journal: European journal of medical genetics

Published: September 15, 2023

Mechanisms of Regulation of the CHRDL1 Gene by the TWIST2 and ADD1/SREBP1c Transcription Factors.

Journal: Genes

Published: July 01, 2023

Kinetic networks identify TWIST2 as a key regulatory node in adipogenesis.

Journal: Genome research

Published: December 01, 2022

De novo triplication at 1p36.23p36.22 further refines the dosage sensitive region of overlap in Setleis syndrome (focal facial dermal dysplasia type III).

Journal: American journal of medical genetics. Part A

Published: November 13, 2022

Focal facial dermal dysplasias type III: Two families with Setleis syndrome in China.

Journal: The Journal of dermatology

Published: March 19, 2022

Expression Profiling Identifies TWIST2 Target Genes in Setleis Syndrome Patient Fibroblast and Lymphoblast Cells.

Journal: International journal of environmental research and public health

Published: December 23, 2020

A case of focal facial dermal dysplasia type 4.

Journal: Pediatric dermatology

Published: December 19, 2018

Focal facial dermal dysplasia type 4: identification of novel CYP26C1 mutations in unrelated patients.

Journal: Journal of human genetics

Published: July 11, 2017

A de novo missense mutation of FGFR2 causes facial dysplasia syndrome in Holstein cattle.

Journal: BMC genetics

Published: March 10, 2017

The focal facial dermal dysplasias: phenotypic spectrum and molecular genetic heterogeneity.

Journal: Journal of medical genetics

Published: February 14, 2017

The TWIST2 mutation causes Setleis syndrome: a rare clinical case report.

Journal: Clinical dysmorphology

Published: October 21, 2016

Barber-Say syndrome and Ablepharon-Macrostomia syndrome: An overview.

Journal: American journal of medical genetics. Part A

Published: March 11, 2016

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Clinical presentation and genetics of tricho-rhino-phalangeal syndrome (TRPS) type 1: A single-center case series of 15 patients and seven novel TRPS1 variants.

Clinical presentation and genetics of tricho-rhino-phalangeal syndrome (TRPS) type 1: A single-center case series of 15 patients and seven novel TRPS1 variants.

Mechanisms of Regulation of the CHRDL1 Gene by the TWIST2 and ADD1/SREBP1c Transcription Factors.

Mechanisms of Regulation of the CHRDL1 Gene by the TWIST2 and ADD1/SREBP1c Transcription Factors.

Kinetic networks identify TWIST2 as a key regulatory node in adipogenesis.

Kinetic networks identify TWIST2 as a key regulatory node in adipogenesis.

De novo triplication at 1p36.23p36.22 further refines the dosage sensitive region of overlap in Setleis syndrome (focal facial dermal dysplasia type III).

De novo triplication at 1p36.23p36.22 further refines the dosage sensitive region of overlap in Setleis syndrome (focal facial dermal dysplasia type III).

Focal facial dermal dysplasias type III: Two families with Setleis syndrome in China.

Focal facial dermal dysplasias type III: Two families with Setleis syndrome in China.

Expression Profiling Identifies TWIST2 Target Genes in Setleis Syndrome Patient Fibroblast and Lymphoblast Cells.

Expression Profiling Identifies TWIST2 Target Genes in Setleis Syndrome Patient Fibroblast and Lymphoblast Cells.

A case of focal facial dermal dysplasia type 4.

A case of focal facial dermal dysplasia type 4.

Focal facial dermal dysplasia type 4: identification of novel CYP26C1 mutations in unrelated patients.

Focal facial dermal dysplasia type 4: identification of novel CYP26C1 mutations in unrelated patients.

A de novo missense mutation of FGFR2 causes facial dysplasia syndrome in Holstein cattle.

A de novo missense mutation of FGFR2 causes facial dysplasia syndrome in Holstein cattle.

The focal facial dermal dysplasias: phenotypic spectrum and molecular genetic heterogeneity.

The focal facial dermal dysplasias: phenotypic spectrum and molecular genetic heterogeneity.

The TWIST2 mutation causes Setleis syndrome: a rare clinical case report.

The TWIST2 mutation causes Setleis syndrome: a rare clinical case report.

Barber-Say syndrome and Ablepharon-Macrostomia syndrome: An overview.

Barber-Say syndrome and Ablepharon-Macrostomia syndrome: An overview.